Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci

Marylyn D. Ritchie; Shefali S. Verma; Molly A. Hall; Robert J. Goodloe; Richard L. Berg; Dave S. Carrell; Christopher S. Carlson; Lin Chen; David R. Crosslin; Joshua C. Denny; Gail Jarvik; Rongling Li; James G. Linneman; Jyoti Pathak; Peggy Peissig; Luke V. Rasmussen; Andrea H. Ramirez; Xiaoming Wang; Russell A. Wilke; Wendy A. Wolf; Eric S. Torstenson; Stephen D. Turner; Catherine A. McCarty

Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci

Marylyn D. Ritchie, Shefali S. Verma, Molly A. Hall, Robert J. Goodloe, Richard L. Berg, Dave S. Carrell, Christopher S. Carlson, Lin Chen, David R. Crosslin, Joshua C. Denny, Gail Jarvik, Rongling Li, James G. Linneman, Jyoti Pathak, Peggy Peissig, Luke V. Rasmussen, Andrea H. Ramirez, Xiaoming Wang, Russell A. Wilke, Wendy A. WolfEric S. Torstenson, Stephen D. Turner, Catherine A. McCarty

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29 Scopus citations

Abstract

Purpose: Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).

Methods: In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumine 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.

Results: We identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10^-5 are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.

Conclusions: This is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.

Original language	English (US)
Pages (from-to)	1281-1295
Number of pages	15
Journal	Molecular vision
Volume	20
State	Published - Sep 19 2014

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© 2014 Molecular Vision.

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Ritchie, M. D., Verma, S. S., Hall, M. A., Goodloe, R. J., Berg, R. L., Carrell, D. S., Carlson, C. S., Chen, L., Crosslin, D. R., Denny, J. C., Jarvik, G., Li, R., Linneman, J. G., Pathak, J., Peissig, P., Rasmussen, L. V., Ramirez, A. H., Wang, X., Wilke, R. A., ... McCarty, C. A. (2014). Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. Molecular vision, 20, 1281-1295.

Ritchie, MD, Verma, SS, Hall, MA, Goodloe, RJ, Berg, RL, Carrell, DS, Carlson, CS, Chen, L, Crosslin, DR, Denny, JC, Jarvik, G, Li, R, Linneman, JG, Pathak, J, Peissig, P, Rasmussen, LV, Ramirez, AH, Wang, X, Wilke, RA, Wolf, WA, Torstenson, ES, Turner, SD & McCarty, CA 2014, 'Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci', Molecular vision, vol. 20, pp. 1281-1295.

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title = "Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci",

abstract = "Purpose: Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).Methods: In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumine 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.Results: We identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10-5 are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.Conclusions: This is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.",

author = "Ritchie, {Marylyn D.} and Verma, {Shefali S.} and Hall, {Molly A.} and Goodloe, {Robert J.} and Berg, {Richard L.} and Carrell, {Dave S.} and Carlson, {Christopher S.} and Lin Chen and Crosslin, {David R.} and Denny, {Joshua C.} and Gail Jarvik and Rongling Li and Linneman, {James G.} and Jyoti Pathak and Peggy Peissig and Rasmussen, {Luke V.} and Ramirez, {Andrea H.} and Xiaoming Wang and Wilke, {Russell A.} and Wolf, {Wendy A.} and Torstenson, {Eric S.} and Turner, {Stephen D.} and McCarty, {Catherine A.}",

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T1 - Electronic medical records and genomics (eMERGE) network exploration in cataract

T2 - Several new potential susceptibility loci

AU - Ritchie, Marylyn D.

AU - Verma, Shefali S.

AU - Hall, Molly A.

AU - Goodloe, Robert J.

AU - Berg, Richard L.

AU - Carrell, Dave S.

AU - Carlson, Christopher S.

AU - Chen, Lin

AU - Crosslin, David R.

AU - Denny, Joshua C.

AU - Jarvik, Gail

AU - Li, Rongling

AU - Linneman, James G.

AU - Pathak, Jyoti

AU - Peissig, Peggy

AU - Rasmussen, Luke V.

AU - Ramirez, Andrea H.

AU - Wang, Xiaoming

AU - Wilke, Russell A.

AU - Wolf, Wendy A.

AU - Torstenson, Eric S.

AU - Turner, Stephen D.

AU - McCarty, Catherine A.

PY - 2014/9/19

Y1 - 2014/9/19

N2 - Purpose: Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).Methods: In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumine 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.Results: We identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10-5 are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.Conclusions: This is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.

AB - Purpose: Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).Methods: In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumine 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.Results: We identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10-5 are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.Conclusions: This is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.

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JO - Molecular vision

JF - Molecular vision

ER -

Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci

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